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Endocrine Abstracts (2024) 99 EP86 | DOI: 10.1530/endoabs.99.EP86

1Charles nicolle hospital, Endocrinology, Tunisia


Introduction: Wilson’s disease is a rare and serious genetic disorder. The accumulation of copper in glands causes several endocrine pathologies. Herein, we report a rare case of hypophysitis with corticotropic deficiency caused by Wilson’s disease.

Observation: A 33-years-old female patient was referred to the endocrinology department for hypoglycemia. She had a history of Wilson’s disease diagnosed at the age of nine complicated by cirrhosis and neurological damage. She presented with fatigue and recurrent hypoglycemia for 3 months and had irregular menses. On physical examination, she had motor incoordination and was in a wheelchair. She was pale. Biological exams revealed corticotropic deficiency with a baseline serum cortisol level of 130 nmol/l and a low serum ACTH (8.62 pg/ml). Liver and renal functions were normal (TP=80%, Serum creatinine=60 y mol/l). She had no thyrotropic deficiency (FT4=0.76 ng/dl, TSH=3.11 mIU/l), no gonadotropic deficiency (estradiol=80 pg/ml, FSH/lH=6.7/23.63 UI/l) and no somatotropic deficiency (serum IGF1=200 yg/l) but had moderate hyperprolactinemia (serum prolactin=60 ng/ml). Magnetic resonance imaging of the hypothalamo–pituitary region did not show an adenoma and revealed a thickened pituitary stalk. She had no other endocrine disorders related to Wilson’s disease like diabetes mellitus (HbA1c = 5%), hypoparathyroidism (serum calcium=2.27 mmom/l, PTH=31.6 pg/ml) or peripheral hypothyroidism (TSH = 3.11 mIU/l). The patient was treated by 20 mg of hydrocortisone hemisuccinate daily. The evolution was characterized by an improvement of the fatigue and the disappearance of hypoglycemia.

Conclusion: Wilson’s disease is a rare inherited condition. Hypophysitis due to Wilson’s disease is rarely reported in the literature. Corticotropic deficiency increases the risk of hypoglycemia and is life-threatening.

Volume 99

26th European Congress of Endocrinology

Stockholm, Sweden
11 May 2024 - 14 May 2024

European Society of Endocrinology 

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